| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23534480C>T | CA274457 | NPC1 | c.3557G>A (p.Arg1186His) c.312G>A n.81G>A n.312G>A c.2635G>A c.234G>A c.3608G>A (p.Arg1203His) c.3143G>A (p.Arg1048His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23534480C= | CA2290163329 | NPC1 | c.3557G= (p.Arg1186=) c.312G= n.81G= n.312G= c.2635G= c.234G= c.3608G= (p.Arg1203=) c.3143G= (p.Arg1048=) | dbSNP |
| 18 | g.23534480C>A | CA401790927 | NPC1 | c.3557G>T (p.Arg1186Leu) c.312G>T n.81G>T n.312G>T c.2635G>T c.234G>T c.3608G>T (p.Arg1203Leu) c.3143G>T (p.Arg1048Leu) | ClinVar dbSNP |